A case of atypical hemolytic uremic syndrome due to anti-factor H antibody in a patient presenting with a factor XII deficiency identified two novel mutations

Eiji Matsukuma, Yoshimitsu Gotoh, Yoshiyuki Kuroyanagi, Takuji Yamada, Mitsuji Iwasa, Satoshi Yamakawa, Takuhito Nagai, Nobuaki Takagi, Hiromu Mae, Kenji Iijima, Elena Bresin

Research output: Contribution to journalArticle

Abstract

A 9-year-old boy with pallor and macrohematuria showed hemolytic anemia, thrombocytopenia and renal failure. There was no history of diarrhea and the stool culture was negative. A diagnosis of atypical hemolytic uremic syndrome (HUS) was confirmed; however, the cause of the prolonged activated partial thromboplastin time (APTT) was unknown. Plasma exchange and hemodialysis were performed because of progressive hemolytic anemia and renal dysfunction. Fresh frozen plasma was administered frequently to correct the prolonged APTT after hemolysis was controlled and C3 levels had recovered. Factor H (FH) and factor I (IF) levels were normal and we did not detect mutations of FH, IF and membrane cofactor protein. Further investigation revealed the presence of anti-FH antibody in the patient's plasma and a deficiency of coagulation factor XII. Analysis of the patient's coagulation system displayed

Original languageEnglish
Pages (from-to)269-274
Number of pages6
JournalClinical and Experimental Nephrology
Volume15
Issue number2
DOIs
Publication statusPublished - Apr 2011

Keywords

  • Anti-factor H antibody
  • Atypical hemolytic uremic syndrome
  • Coagulation factor XII deficiency
  • Factor H
  • Prolonged APTT

ASJC Scopus subject areas

  • Nephrology
  • Physiology
  • Physiology (medical)

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